Building early relationships: a gamechanger for pioneering rare disease treatment

Simon Craig | 16 February 2021

In rare diseases community voices are amplified. Senior Associate Consultant Simon Craig explores how life science companies can innovate when engaging patient groups and key opinion leaders, and why doing this early on is the key to success.

Advocacy groups play a crucial role in both driving access to innovative treatment and services and educating patients and caregivers on novel breakthroughs.

On average, it takes more than four years to receive an accurate diagnosis of a rare disease.1 This diagnostic odyssey has pushed patients and caregivers online to self-diagnose and learn more about their symptoms. Patients and their loved ones wish to give a name to their symptoms and to attempt to derive sense from a long and often conflicting diagnostic journey and identify potential treatments or options for themselves.

The internet has emerged as an important tool in supporting patients and physicians through the management of rare diseases. Patient Advocacy Groups such as Genetic Alliance (UK) and National Organisation for Rare Diseases (US) have a large online presence and offer support to patients, friends, families, and treating physicians.2,3

Patient Advocacy groups do not just publish website content, but many disease specific groups also have a sizeable social media following. Many patients and family members join closed groups through Facebook and other social media platforms to connect with other patients from all over the world, for example the Keratoconus Facebook group has over 23.4K members from all over the globe.

Dedicated channels like the subreddit R/Haemophilia connect patients and combat the sense of isolation that can be common to sufferers of a rare disease. During the COVID-19 pandemic, these forums have become vital lifelines for patients and their caregivers, who are often shielding to protect themselves or their loved ones from the virus.4Ultimately, this has led to tight-knit and vocal rare disease communities who are motivated and have the potential to shape policy and encourage innovation.

One group excelling in this space is the Genetic Alliance. The group is working with the government department Public Health England to shape the future of care for rare disease patients in the UK. Their work ranges from developing new services in partnership with the National Health Service (NHS) to working with the All Party Parliamentary Group on Rare, Genetic and Undiagnosed Conditions, and the Department of Health on the UK Strategy for Rare Diseases.2

Advocacy groups like the Genetic Alliance have become a supporting voice for rare disease patients and play a crucial role in both driving access to innovative treatment and services and educating patients and caregivers on novel breakthroughs.2

Why is engaging with the community important? And when should this take place?

Listening to the community early on is vital for deeply understanding the patients and their caregivers, as well as healthcare professionals and other stakeholders they interact with on their diagnosis and treatment journey.5,6

Armed with these insights, life sciences companies can develop patient-centric solutions that will lead to more successful products. Taking an engaged approach has clear benefits, including improved trial retention and development of PROs that can support market-entry and market access. Importantly, you can ensure product and service messages are relevant to patients and add value, driving competitive advantage in increasingly crowded landscapes.

One mistake many life science organizations make is waiting until it’s too late to really start listening to both patient and scientific communities. However, we have found that working with these groups during the design of the clinical trial is far more beneficial. By building trust early on, the patients will feel part of the solution from the outset, and communities may begin to work alongside pharma to support the acceptance and approval of new products.

According to one study by The Economist Intelligence Unit Committee, therapies with a patient-centric trial design were 41% more likely to be added to the payer formulary because drugs that used this approach were 90% more likely to be launched than those that were not. The study also showed taking a patient-centric approach to drug development had a significant impact on the likelihood of launch success across oncology, neurology, and of course, rare disease.7

Therapies with a patient-centric trial design were 41% more likely to be added to the payer formulary.

However, life sciences companies do not just need to engage the patients early on. Gaining input from key opinion leaders (KOLs) is also highly beneficial to the drug development process. Identifying a KOL steering committee both increases engagement and ensures the voice of the customer is considered, from R&D to commercialization. The committee, which should consist of established and up-and-coming KOLs, then becomes the golden thread uniting the medical and commercial teams in one voice and purpose.

Several digital tools are available to help uncover the influencers in each community. Digital Opinion Leader (DOL) mapping helps brands to learn about key communicators in the field online, including patient advocates, established KOLs, and rising stars. It involves conducting research to understand who these influencers are and mapping the depth of their influence in the rare disease community. 

Once the company has identified DOLs, it can connect the insights to the brand strategy. Adopting a hybrid approach, mixing online and traditional KOL engagement will help identify opportunities to shape brand perceptions in new markets where pharma companies and lean biotechs may have a limited market presence.

Case study: Launching a drug for an ultra-rare disease

Recently, a top pharmaceutical company launched a pioneering first-in-class therapy for patients suffering from an ultra-rare genetic disease, which impacts fewer than 50,000 people worldwide.

Due to the rarity of the disease and the diversity of symptoms, healthcare professionals often misdiagnose patients, and the diagnosis journey is fraught with challenges.

The US launch campaign focused on unifying the entire community–healthcare professionals, patients, caregivers, and family members–around the common theme of creating a future for families free from disease progression.

The organization developed a pre‑launch disease awareness campaign to educate healthcare professionals on the symptoms, diagnostic pathways, and to identify potential patients through data analysis via medical science liaisons.

The team also developed an unbranded multichannel campaign to educate patients about the disease and to encourage them to speak with their family members as this disease is hereditary.

However, it was the commitment to developing deep relationships within patient communities early on that ensured the campaign excelled. Many patients with this rare disease are from the African American community and they often distrust the healthcare system.

The organization reached out to trusted leaders, such as pastors, to spread the message about genetic testing and to drive patients to speak to their family members.

They also worked with patient advocacy groups, such as Black Health Matters, and developed customized education programs for the African American community. Simultaneously, they worked with KOLs to help improve clinical trial diversity.

By building these relationships early, the organization uncovered several barriers preventing patient access, particularly in underprivileged groups. To help solve these challenges, the company developed a program that provides personalized support to patients. The multifaceted platform includes a financial assistance program, case managers to help patients navigate the insurance process, and disease and treatment education.

The tool became central to the launch campaign, helping to drive access to no-cost genetic testing and providing tangible support for those who need it.

The approach generated awareness and excitement, which ultimately led to rapid adoption, and the brand surpassed its first-year revenue forecast by 5%.

Engaging the rare disease community

Community voices in rare diseases are louder, as the number of experts is proportionally lower, so failing to meaningfully connect with the handful of healthcare professionals and patient communities out there is a risk to the overall strategy. Driving participation through a combination of digital strategy and in-person engagements widens the opportunity to interact and engage in product development and commercialization.

Opportunities for activation include:

  • Developing patient activation strategies by learning from their experiences, educating them and empowering them to take a greater involvement in their diagnostic and treatment journey
  • Boosting HCP engagement strategies to deliver exceptional customer experience through every interaction, from the digitization of congresses to publication plans
  • Developing rising stars who are looking to make a mark in a rare disease, these physicians may be younger and more adept and engaging digitally compared to other KOLs. This can be a direct result of early DOL mapping
  • Adopting a ‘High-Touch’ communication model for healthcare professionals – as there are fewer physicians, each one represents a high-value contact, so frequent and meaningful engagement is more likely to drive adoption with key customers
  • Disseminating accurate and valuable disease information to patient advocacy groups to aid in diagnosis and support patients and caregivers living with rare diseases

Building a unified future

It is well known that broad disease awareness campaigns are less successful in rare diseases due to the small patient pool and diagnostic odyssey. To make an impact in a rare disease, you have to spend time getting to know the patients, their caregivers, and healthcare professionals and connecting with them both virtually and in-person. Never has this been more important than during the global COVID-19 pandemic when patients feel isolated, and their world has become digital.

To make an impact in a rare disease, you have to spend time getting to know the patients, their caregivers, and healthcare professionals.

In rare diseases, the relationship between doctors and patients varies widely. Engagement must be consistent and community-minded, understanding that fostering an engaged and motivated community will indirectly benefit your product. Activating interested patient groups and connecting them with up-and-coming-physicians who are dedicated to the space not only raises awareness of the brand, it helps strengthen the relationship. As a result, patients can receive a faster diagnosis and better treatment, facilitating a better future for everyone impacted by a rare disease.


  1. Rare Disease UK (2019). Illuminating the Rare Reality. [online] London: Genetic Alliance UK. Available at: https://www.raredisease.org.uk/wpcontent/uploads/sites/7/2019/02/Illuminating-the-rare-reality-2019.pdf
  2. https://geneticalliance.org.uk/our-work/
  3. https://rarediseases.org/for-patients-and-families/information-resources/physician-guides/
  4. r/Hemophilia available at https://www.reddit.com/r/Hemophilia/
  5. https://bluematterconsulting.com/organizing-rare-disease-business-model/
  6. https://www.mckinsey.com/industries/pharmaceuticals-and-medical-products/our-insights/how-to-successfully-launch-a-rare-disease-drug-in-a-patient-centric-world#
  7. https://www.parexel.com/news-events-resources/blog/ins-and-outs-incorporating-patient-centricity-drug-development



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